ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) (rs776254949)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721420 SCV000533634 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000437891 SCV001653067 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Lys2146Lys in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (5/16438) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs776254949).
Invitae RCV001469671 SCV001673753 likely benign Alstrom syndrome 2020-11-19 criteria provided, single submitter clinical testing

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