ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)

gnomAD frequency: 0.00001  dbSNP: rs546494522
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Total submissions: 6
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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 RCV000155907 SCV000205618 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing Asn5182Asn in Exon 72 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and it is not locate d within the splice consensus sequence.
Eurofins Ntd Llc (ga) RCV000155907 SCV000337204 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV000933774 SCV001079483 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000933774 SCV001905129 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453183 SCV004182586 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453182 SCV004182597 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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