ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.1171C>T (p.Pro391Ser)

dbSNP: rs373599249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776726 SCV002013512 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001825036 SCV002075158 not provided Intellectual developmental disorder with autistic features and language delay, with or without seizures no assertion provided phenotyping only Variant was reported in multiple registry participants. Variant was classified+AT204 as Uncertain significance and reported, most recently, on 09-01-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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