ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5364C>T (p.Asp1788=)

gnomAD frequency: 0.00006  dbSNP: rs148618471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652639 SCV000774510 likely benign Luscan-Lumish syndrome 2020-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937986 SCV004753201 likely benign SETD2-related condition 2019-05-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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