ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)

dbSNP: rs1671880064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197831 SCV001368611 pathogenic Alstrom syndrome 2020-03-17 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.

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