ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1611G>A (p.Val537=)

dbSNP: rs1486197417
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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 RCV002157679 SCV002412078 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017134 SCV005645476 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-02-01 criteria provided, single submitter clinical testing

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