ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs)

dbSNP: rs1553403653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000505220 SCV000599239 pathogenic Alstrom syndrome 2016-12-21 no assertion criteria provided clinical testing

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