ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.64C>T (p.Leu22=)

gnomAD frequency: 0.00016  dbSNP: rs770760366
Minimum review status: Collection method:
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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 Inc RCV000865149 SCV001475879 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing
Invitae RCV001416953 SCV001619143 likely benign Progressive myoclonic epilepsy 2024-01-22 criteria provided, single submitter clinical testing

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