ClinVar Miner

Submissions for variant NM_015103.3(PLXND1):c.889G>A (p.Ala297Thr)

gnomAD frequency: 0.00014  dbSNP: rs376671922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879261 SCV001022281 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000879261 SCV005257748 likely benign not provided criteria provided, single submitter not provided
Undiagnosed Diseases Network, NIH RCV002509576 SCV002818560 uncertain significance Kleine-Levin syndrome 2017-10-19 no assertion criteria provided clinical testing

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