ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.520G>C (p.Val174Leu)

dbSNP: rs149036717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521123 SCV000621962 uncertain significance not provided 2020-10-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000521123 SCV002384634 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing

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