ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2704G>C (p.Glu902Gln)

gnomAD frequency: 0.01669  dbSNP: rs58906143
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000122042 SCV000615154 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000553714 SCV000655725 benign Luscan-Lumish syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668277 SCV001884656 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000553714 SCV002553736 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000122042 SCV000086253 not provided not specified 2013-09-19 no assertion provided reference population

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