ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)

gnomAD frequency: 0.00766  dbSNP: rs5019554
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179349 SCV000231584 benign not specified 2014-11-23 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625250 SCV000744313 likely benign Congenital stationary night blindness 1B 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972586 SCV001120307 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972586 SCV004032647 benign not provided 2023-08-01 criteria provided, single submitter clinical testing GRM6: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000972586 SCV005222611 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000179349 SCV001918241 benign not specified no assertion criteria provided clinical testing

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