ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2938G>C (p.Ala980Pro)

gnomAD frequency: 0.00003  dbSNP: rs373969392
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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 RCV000804347 SCV000944251 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992745 SCV001145261 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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