ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.573C>G (p.Leu191=)

gnomAD frequency: 0.00001  dbSNP: rs1347908694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289336 SCV001477071 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001289336 SCV004373643 likely benign not provided 2024-10-25 criteria provided, single submitter clinical testing

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