ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.444G>A (p.Pro148=)

dbSNP: rs147896150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001111281 SCV001268827 uncertain significance Pituitary hormone deficiency, combined, 6 2017-04-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069797 SCV002490338 likely benign Anophthalmia-microphthalmia syndrome 2024-01-22 criteria provided, single submitter clinical testing

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