ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=)

gnomAD frequency: 0.00011  dbSNP: rs114175094
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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 RCV000900442 SCV001044761 likely benign not provided 2023-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000900442 SCV001150847 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502654 SCV002807895 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-02-25 criteria provided, single submitter clinical testing

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