ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu)

gnomAD frequency: 0.00003  dbSNP: rs201609442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762247 SCV000892534 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231452 SCV001129767 likely benign Sotos syndrome 2022-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231452 SCV002055038 likely benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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