ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)

gnomAD frequency: 0.00014  dbSNP: rs200179480
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086417 SCV000544711 likely benign Spastic paraplegia 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000472037 SCV001149251 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing

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