ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.441C>T (p.Phe147=)

gnomAD frequency: 0.00006  dbSNP: rs754428166
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
Athena Diagnostics RCV001663681 SCV001880758 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546710 SCV004267591 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing

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