ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.578C>T (p.Pro193Leu)

gnomAD frequency: 0.00027  dbSNP: rs77310684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550253 SCV000655756 benign Luscan-Lumish syndrome 2023-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945316 SCV004765511 benign SETD2-related condition 2020-09-23 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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