ClinVar Miner

Submissions for variant NC_000008.10:g.(?_37595441)_(38961219_?)dup

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003109616 SCV003791606 uncertain significance Spastic paraplegia 2023-12-11 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the ERLIN2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with ERLIN2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003116548 SCV003793038 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-03-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the FGFR1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.
Labcorp Genetics (formerly Invitae), Labcorp RCV003116547 SCV003793990 uncertain significance Hereditary spastic paraplegia 54 2022-08-22 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the DDHD2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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