ClinVar Miner

Submissions for variant NM_001701.4(BAAT):c.762G>A (p.Thr254=)

gnomAD frequency: 0.00006  dbSNP: rs760488689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730648 SCV000858399 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730648 SCV004280862 likely benign not provided 2022-10-31 criteria provided, single submitter clinical testing

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