ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.807G>A (p.Thr269=)

gnomAD frequency: 0.00001  dbSNP: rs759106494
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000355116 SCV000402020 uncertain significance Spongy degeneration of central nervous system 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000355116 SCV001656504 likely benign Spongy degeneration of central nervous system 2024-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000355116 SCV002033306 uncertain significance Spongy degeneration of central nervous system 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000355116 SCV002093212 likely benign Spongy degeneration of central nervous system 2019-05-22 no assertion criteria provided clinical testing

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