ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs)

dbSNP: rs1555514467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499151 SCV000589222 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-02 no assertion criteria provided research

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