ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2397T>G (p.Gly799=)

gnomAD frequency: 0.00004  dbSNP: rs770859081
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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 RCV002075751 SCV002384415 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486859 SCV002797416 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-08-09 criteria provided, single submitter clinical testing

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