ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=)

gnomAD frequency: 0.00001  dbSNP: rs199913903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505127 SCV001710018 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495773 SCV002801735 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-12-06 criteria provided, single submitter clinical testing

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