ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.573A>G (p.Gly191=)

gnomAD frequency: 0.00016  dbSNP: rs372123800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967228 SCV001114604 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001113666 SCV001271457 uncertain significance Oculocutaneous albinism 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001593155 SCV001821901 likely benign Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing

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