ClinVar Miner

Submissions for variant NC_000003.11:g.(?_93597987)_(93598178_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582208 SCV005066331 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2024-01-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13 of the PROS1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PROS1 are known to be pathogenic (PMID: 9241758). A similar copy number variant has been observed in individual(s) with protein S deficiency (PMID: 1671337). For these reasons, this variant has been classified as Pathogenic.

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