ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)

gnomAD frequency: 0.00322  dbSNP: rs115088000
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000385537 SCV000340802 benign not specified 2016-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000712280 SCV000520125 likely benign not provided 2022-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712280 SCV000842730 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000712280 SCV001117752 benign not provided 2021-11-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001162916 SCV001324896 benign Microcephaly 1, primary, autosomal recessive 2017-10-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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