ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)

gnomAD frequency: 0.00001  dbSNP: rs774163551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289176 SCV001476825 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537985 SCV003481585 likely benign Spastic paraplegia 2023-06-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830108 SCV002086263 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-08-16 no assertion criteria provided clinical testing

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