ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1569C>A (p.Gly523=)

gnomAD frequency: 0.00006  dbSNP: rs145764775
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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 RCV002166697 SCV002324482 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498110 SCV002806066 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-10-30 criteria provided, single submitter clinical testing

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