ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)

dbSNP: rs56126236
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490457 SCV000267468 likely pathogenic Gorlin syndrome 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000490457 SCV001006532 likely benign Gorlin syndrome 2024-01-21 criteria provided, single submitter clinical testing
Mendelics RCV000490457 SCV001135243 uncertain significance Gorlin syndrome 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000490457 SCV001529371 uncertain significance Gorlin syndrome 2018-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000006520 SCV000026703 pathogenic Medulloblastoma 1999-02-01 no assertion criteria provided literature only
OMIM RCV000490457 SCV000763426 uncertain significance Gorlin syndrome 2023-04-21 no assertion criteria provided literature only

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