ClinVar Miner

Submissions for variant NM_174937.4(TCERG1L):c.729C>T (p.Ala243=)

gnomAD frequency: 0.00095  dbSNP: rs149055623
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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 RCV000967184 SCV001114557 benign not provided 2018-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000967184 SCV004134882 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TCERG1L: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000967184 SCV005324495 benign not provided criteria provided, single submitter not provided

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