ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.21G>A (p.Ala7=)

gnomAD frequency: 0.00320  dbSNP: rs61737888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250621 SCV000312565 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250621 SCV000729624 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000951528 SCV001097933 benign Orofacial-digital syndrome IV; Joubert syndrome 18 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705103 SCV005221974 likely benign not provided criteria provided, single submitter not provided

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