ClinVar Miner

Submissions for variant NM_198506.5(LRIT3):c.1509G>A (p.Thr503=)

gnomAD frequency: 0.00652  dbSNP: rs76587489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178415 SCV000230489 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351542 SCV000446920 likely benign Congenital Stationary Night Blindness, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521176 SCV001730462 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001521176 SCV001937013 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521176 SCV005263073 likely benign not provided criteria provided, single submitter not provided

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