ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2453G>A (p.Arg818His)

gnomAD frequency: 0.00390  dbSNP: rs117843717
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195065 SCV000248873 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891837 SCV001035675 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891837 SCV003916758 likely benign not provided 2025-04-01 criteria provided, single submitter clinical testing SHANK2: BS2
Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto RCV000590889 SCV000598575 uncertain significance Autism 2016-01-01 no assertion criteria provided research

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