ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])

dbSNP: rs1041304220
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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 RCV000800809 SCV000940545 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-05-07 criteria provided, single submitter clinical testing This variant, c.80_94del, results in the deletion of 5 amino acid(s) of the ADAMTS2 protein (p.Leu27_Pro31del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 646512). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV000800809 SCV002780852 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000800809 SCV001458941 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-16 no assertion criteria provided clinical testing

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