ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.886+16G>A

gnomAD frequency: 0.00014  dbSNP: rs202005802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002185321 SCV002358792 benign Alzheimer disease 4 2023-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494087 SCV002797880 likely benign Alzheimer disease 4; Dilated cardiomyopathy 1V 2021-08-23 criteria provided, single submitter clinical testing

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