ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1368C>T (p.Ile456=)

dbSNP: rs141309818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473724 SCV001677880 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495704 SCV002800033 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533826 SCV004726638 likely benign ABCC6-related disorder 2019-06-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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