ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2067C>T (p.Ile689=)

gnomAD frequency: 0.00789  dbSNP: rs61266641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973536 SCV001121298 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503097 SCV002811220 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-07-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701276 SCV001926035 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701276 SCV001964935 benign not specified no assertion criteria provided clinical testing

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