ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)

dbSNP: rs397517998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041780 SCV000065476 likely benign not specified 2011-08-31 criteria provided, single submitter clinical testing Ala5048Ala in exon 70 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Counsyl RCV000664750 SCV000788759 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2016-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000928342 SCV001073952 likely benign not provided 2024-06-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450815 SCV004181725 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450814 SCV004181736 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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