ClinVar Miner

Submissions for variant NM_001177676.2(GPR68):c.1006G>T (p.Glu336Ter)

gnomAD frequency: 0.00101  dbSNP: rs61745752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902595 SCV001047025 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000902595 SCV005217866 likely benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359652 SCV005920461 likely pathogenic Amelogenesis imperfecta, hypomaturation type, IIa6 2023-01-05 criteria provided, single submitter research

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