ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1060G>A (p.Val354Met)

gnomAD frequency: 0.00015  dbSNP: rs372132926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996234 SCV001150853 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ABCC6: BP4
Fulgent Genetics, Fulgent Genetics RCV002479175 SCV002788399 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-05-02 criteria provided, single submitter clinical testing

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