ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)

gnomAD frequency: 0.00001  dbSNP: rs372521251
Minimum review status: Collection method:
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001419782 SCV001622043 likely benign Luscan-Lumish syndrome 2024-02-26 criteria provided, single submitter clinical testing
New York Genome Center RCV001419782 SCV002764278 uncertain significance Luscan-Lumish syndrome 2021-04-20 criteria provided, single submitter clinical testing

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