ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.960G>A (p.Ser320=)

gnomAD frequency: 0.00044  dbSNP: rs372630442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907912 SCV001052643 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000907912 SCV001855700 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907912 SCV004153972 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing TRIO: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000907912 SCV005259671 likely benign not provided criteria provided, single submitter not provided

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