ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3507-14G>A

gnomAD frequency: 0.00001  dbSNP: rs1006071217
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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 RCV002076199 SCV002423790 likely benign not provided 2023-05-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500114 SCV002805261 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-04-22 criteria provided, single submitter clinical testing

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