ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1312G>A (p.Val438Met)

gnomAD frequency: 0.00016  dbSNP: rs542502733
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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 RCV000885893 SCV001029369 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501420 SCV002812002 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-10-04 criteria provided, single submitter clinical testing

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