ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr)

gnomAD frequency: 0.00034  dbSNP: rs115788094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000428574 SCV000510662 uncertain significance not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001087250 SCV000774512 likely benign Luscan-Lumish syndrome 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000428574 SCV001145526 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
ITMI RCV000122032 SCV000086243 not provided not specified 2013-09-19 no assertion provided reference population

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