ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2058C>T (p.Phe686=)

gnomAD frequency: 0.00004  dbSNP: rs57866002
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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 RCV000921542 SCV001066949 likely benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479070 SCV002800666 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-03-31 criteria provided, single submitter clinical testing

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