ClinVar Miner

Submissions for variant NM_001378743.1(CYLD):c.170A>G (p.His57Arg)

gnomAD frequency: 0.00001  dbSNP: rs767537235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788976 SCV002030242 uncertain significance Brooke-Spiegler syndrome 2021-01-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV004571099 SCV005058636 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 2024-02-29 criteria provided, single submitter clinical testing

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