ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.4081G>T (p.Asp1361Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005019677 SCV005645695 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-01-02 criteria provided, single submitter clinical testing

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