ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn)

dbSNP: rs72653790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005010419 SCV005638907 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-04-02 criteria provided, single submitter clinical testing
PXE International RCV000499273 SCV000589005 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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