ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.977G>A (p.Arg326His)

gnomAD frequency: 0.00383  dbSNP: rs16929374
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504221 SCV000597804 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000504221 SCV000702645 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000956703 SCV001103481 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167382 SCV001329872 likely benign Oculocutaneous albinism type 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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