ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.975C>T (p.Ala325=)

gnomAD frequency: 0.00009  dbSNP: rs777072801
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993302 SCV001146154 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Invitae RCV003769322 SCV004597369 likely benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2023-09-21 criteria provided, single submitter clinical testing

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