ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1623G>A (p.Gln541=)

gnomAD frequency: 0.00004  dbSNP: rs201083322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606169 SCV000725618 likely benign not specified 2017-12-14 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 RCV001466584 SCV001670588 likely benign Bardet-Biedl syndrome 2024-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498944 SCV002802338 likely benign Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-09-09 criteria provided, single submitter clinical testing

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