ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs) (rs1671951264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Diseases Lab,University of Vigo RCV001293388 SCV001481969 pathogenic Alstrom syndrome 2021-02-09 no assertion criteria provided research The patient is homozygous for this mutation and has the disease.

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