ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.473C>T (p.Ala158Val)

dbSNP: rs2606921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001672806 SCV001887679 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28655553, 31589614, 16392638, 16086317)
Fulgent Genetics, Fulgent Genetics RCV002496915 SCV002811332 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-29 criteria provided, single submitter clinical testing
PXE International RCV000499049 SCV000588926 likely benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-02 no assertion criteria provided research

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