ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1636-10C>T

gnomAD frequency: 0.00335  dbSNP: rs61480102
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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 RCV000889109 SCV001032771 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495379 SCV002801877 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-07-23 criteria provided, single submitter clinical testing

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