ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.2028A>G (p.Thr676=)

gnomAD frequency: 0.00001  dbSNP: rs781747090
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156201 SCV002470927 likely benign not provided 2022-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500352 SCV002805372 likely benign Polycystic liver disease 2 2022-05-24 criteria provided, single submitter clinical testing

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