ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)

gnomAD frequency: 0.00006  dbSNP: rs369421455
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945778 SCV001091830 benign Luscan-Lumish syndrome 2023-10-05 criteria provided, single submitter clinical testing
New York Genome Center RCV000945778 SCV003925451 uncertain significance Luscan-Lumish syndrome 2022-04-15 criteria provided, single submitter clinical testing

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