ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup)

dbSNP: rs1455775922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671037 SCV000795976 uncertain significance Alstrom syndrome 2017-11-26 criteria provided, single submitter clinical testing
GeneDx RCV003322807 SCV004028453 uncertain significance not provided 2023-02-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 7 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; No nearby in-frame duplications or missense variants have been reported as pathogenic in HGMD or at GeneDx

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