ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.903G>T (p.Thr301=)

gnomAD frequency: 0.03334  dbSNP: rs6426553
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000248749 SCV000304364 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000530428 SCV000355185 likely benign Alzheimer disease 4 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000351210 SCV000355186 likely benign Dilated cardiomyopathy 1V 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000530428 SCV000640141 benign Alzheimer disease 4 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001722290 SCV001948901 benign not provided 2018-11-16 criteria provided, single submitter clinical testing

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