ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)

gnomAD frequency: 0.00001  dbSNP: rs137852798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001129174 SCV001288682 uncertain significance Lethal multiple pterygium syndrome 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001129175 SCV001288683 uncertain significance Congenital myasthenic syndrome 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001129174 SCV001646934 likely benign Lethal multiple pterygium syndrome 2023-12-11 criteria provided, single submitter clinical testing

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