ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.327G>A (p.Thr109=)

gnomAD frequency: 0.00072  dbSNP: rs79914771
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246018 SCV000313626 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000246018 SCV000707869 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082071 SCV000758076 benign Familial infantile myasthenia 2025-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676661 SCV005220696 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676661 SCV000802456 likely benign not provided 2018-03-19 no assertion criteria provided clinical testing

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