ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.2439T>G (p.Ser813=)

gnomAD frequency: 0.00005  dbSNP: rs374776244
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 RCV001495375 SCV001700057 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001495375 SCV005217732 likely benign not provided criteria provided, single submitter not provided

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