ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.689G>T (p.Gly230Val)

gnomAD frequency: 0.00026  dbSNP: rs142978552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541221 SCV001759192 uncertain significance not provided 2022-02-14 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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847301 SCV002106291 uncertain significance Hereditary spastic paraplegia 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001541221 SCV002373378 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001541221 SCV005412210 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing BP4_moderate

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