ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.345+10C>T

gnomAD frequency: 0.00009  dbSNP: rs768002646
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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 RCV000936005 SCV001081764 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489249 SCV002801038 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-12-23 criteria provided, single submitter clinical testing

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